A novel FOXL2 mutation in two infertile patients with blepharophimosis–ptosis–epicanthus inversus syndrome

Screening of a large cohort of blepharophimosis, ptosis, and epicanthus inversus syndrome patients reveals a very strong paternal inheritance bias and a wide spectrum of novel FOXL2 mutations

(2019) David J. Bunyan et al.   European Journal of Medical Genetics

The genetic make-up of ovarian development and function: the focus on the transcription factor FOXL2

(2016) M. Elzaiat et al.   CLINICAL GENETICS

Positive cross talk between FOXL2 and antimüllerian hormone regulates ovarian reserve

(2014) Mira Park et al.   FERTILITY AND STERILITY

The transcription factor FOXL2 mobilizes estrogen signaling to maintain the identity of ovarian granulosa cells

(2014) Adrien Georges et al.   eLife

FOXL2 Impairment in Human Disease

(2012) Hannah Verdin et al.   Hormone Research in Paediatrics

Mutant Forkhead L2 (FOXL2) Proteins Associated with Premature Ovarian Failure (POF) Dimerize with Wild-Type FOXL2, Leading to Altered Regulation of Genes Associated with Granulosa Cell Differentiation

(2011) Fang-Ting Kuo et al.   ENDOCRINOLOGY

Minireview: Roles of the Forkhead Transcription Factor FOXL2 in Granulosa Cell Biology and Pathology

(2011) Margareta D. Pisarska et al.   ENDOCRINOLOGY

Transcription factor FOXL2 protects granulosa cells from stress and delays cell cycle: role of its regulation by the SIRT1 deacetylase

(2011) Bérénice A. Benayoun et al.   HUMAN MOLECULAR GENETICS

Mutational probing of the forkhead domain of the transcription factor FOXL2 provides insights into the pathogenicity of naturally occurring mutations

(2011) Anne-Laure Todeschini et al.   HUMAN MOLECULAR GENETICS

The transcription factor FOXL2: At the crossroads of ovarian physiology and pathology

(2011) Sandrine Caburet et al.   MOLECULAR AND CELLULAR ENDOCRINOLOGY

Human forkhead L2 represses key genes in granulosa cell differentiation including aromatase, P450scc, and cyclin D2

(2009) Ikuko K. Bentsi-Barnes et al.   FERTILITY AND STERILITY

Towards a functional classification of pathogenic FOXL2 mutations using transactivation reporter systems

(2009) Aurélie Dipietromaria et al.   HUMAN MOLECULAR GENETICS

FOXL2 mutations lead to different ovarian phenotypes in BPES patients: Case Report

(2009) G. Meduri et al.   HUMAN REPRODUCTION

Functional evidence implicating FOXL2 in non-syndromic premature ovarian failure and in the regulation of the transcription factor OSR2

(2009) P Laissue et al.   JOURNAL OF MEDICAL GENETICS

Missense mutations in the forkhead domain of FOXL2 lead to subcellular mislocalization, protein aggregation and impaired transactivation

(2008) Diane Beysen et al.   HUMAN MOLECULAR GENETICS

Positive and negative feedback regulates the transcription factor FOXL2 in response to cell stress: evidence for a regulatory imbalance induced by disease-causing mutations

(2008) Bérénice A. Benayoun et al.   HUMAN MOLECULAR GENETICS

The identification and characterization of a FOXL2 response element provides insights into the pathogenesis of mutant alleles

(2008) Bérénice A. Benayoun et al.   HUMAN MOLECULAR GENETICS

FOXL2mutations and genomic rearrangements in BPES

(2008) Diane Beysen et al.   HUMAN MUTATION